Canonical Allele Identifier: CA389678695
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905410G>T , CM000676.2:g.50905410G>T GRCh38
NC_000014.8:g.51372128G>T , CM000676.1:g.51372128G>T GRCh37
NC_000014.7:g.50441878G>T NCBI36
NG_012796.1:g.44121C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2526C>A MANE Select ENSP00000216392.7:p.Asn842Lys
ENST00000216392.7:c.2526C>A ENSP00000216392.7:p.Asn842Lys
ENST00000532462.5:c.2379+2861C>A ENSP00000431657.1:n.2379+2861C>A
ENST00000544180.6:c.2424C>A ENSP00000443787.1:p.Asn808Lys
NM_001163940.1:c.2424C>A NP_001157412.1:p.Asn808Lys
NM_002863.4:c.2526C>A NP_002854.3:p.Asn842Lys
NM_002863.5:c.2526C>A MANE Select NP_002854.3:p.Asn842Lys
NM_001163940.2:c.2424C>A NP_001157412.1:p.Asn808Lys